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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/177297
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
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Purpose: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole-gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS. Methods: We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS. Results: There were no reports of schwannoma in over 1,500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole-gene deletion in LZTR1. Only 1 patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole-gene deletion of LZTR1. Conclusion: People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.
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EVANS, D. gareth, MESSIAEN, Ludwine m., FOULKES, William d., IRVING, Rachel e. a., MURRAY, Alexandra j., PEREZ-BECERRIL, Cristina, RIVERA, Barbara, MCDONALD MCGINN, Donna m., STEVENSON, David a., SMITH, Miriam j.. Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. _Genetics in Medicine_. 2021. [consulta: 25 de febrer de 2026]. [Disponible a: https://hdl.handle.net/2445/177297]